-
1
-
-
34247097562
-
The renaming of mental retardation: understanding the change to the term intellectual disability
-
Schalock R.L., et al. The renaming of mental retardation: understanding the change to the term intellectual disability. Intellect. Dev. Disabil. 2007, 45:116-124.
-
(2007)
Intellect. Dev. Disabil.
, vol.45
, pp. 116-124
-
-
Schalock, R.L.1
-
2
-
-
84871103234
-
-
American Psychiatric Association, American Psychiatric Association
-
American Psychiatric Association Diagnostic and Statistic Manual of Mental Disorders 2000, American Psychiatric Association. 4th Revision: DSM-IV-TR.
-
(2000)
Diagnostic and Statistic Manual of Mental Disorders
-
-
-
3
-
-
0036948248
-
The epidemiology of mental retardation: challenges and opportunities in the new millennium
-
Leonard H., Wen X. The epidemiology of mental retardation: challenges and opportunities in the new millennium. Ment. Retard. Dev. Disabil. Res. Rev. 2002, 8:117-134.
-
(2002)
Ment. Retard. Dev. Disabil. Res. Rev.
, vol.8
, pp. 117-134
-
-
Leonard, H.1
Wen, X.2
-
4
-
-
77957968873
-
Genetics of early onset cognitive impairment
-
Ropers H.H. Genetics of early onset cognitive impairment. Annu. Rev. Genomics Hum. Genet. 2010, 11:161-187.
-
(2010)
Annu. Rev. Genomics Hum. Genet.
, vol.11
, pp. 161-187
-
-
Ropers, H.H.1
-
5
-
-
18344382916
-
X-linked mental retardation: further lumping, splitting and emerging phenotypes
-
Kleefstra T., Hamel B.C. X-linked mental retardation: further lumping, splitting and emerging phenotypes. Clin. Genet. 2005, 67:451-467.
-
(2005)
Clin. Genet.
, vol.67
, pp. 451-467
-
-
Kleefstra, T.1
Hamel, B.C.2
-
6
-
-
84859514257
-
Fragile X and X-linked intellectual disability: four decades of discovery
-
Lubs H.A., et al. Fragile X and X-linked intellectual disability: four decades of discovery. Am. J. Hum. Genet. 2012, 90:579-590.
-
(2012)
Am. J. Hum. Genet.
, vol.90
, pp. 579-590
-
-
Lubs, H.A.1
-
7
-
-
84881618216
-
XLID-causing mutations and associated genes challenged in light of data form large-scale human exome sequencing
-
Piton A., et al. XLID-causing mutations and associated genes challenged in light of data form large-scale human exome sequencing. Am. J. Hum. Genet. 2013, 93:368-383.
-
(2013)
Am. J. Hum. Genet.
, vol.93
, pp. 368-383
-
-
Piton, A.1
-
8
-
-
84857434829
-
Genomics, intellectual disability, and autism
-
Mefford H.C., et al. Genomics, intellectual disability, and autism. N. Engl. J. Med. 2012, 366:733-743.
-
(2012)
N. Engl. J. Med.
, vol.366
, pp. 733-743
-
-
Mefford, H.C.1
-
9
-
-
84863970074
-
De novo mutations in human genetic disease
-
Veltman J.A., Brunner H.G. De novo mutations in human genetic disease. Nat. Rev. Genet. 2012, 13:565-575.
-
(2012)
Nat. Rev. Genet.
, vol.13
, pp. 565-575
-
-
Veltman, J.A.1
Brunner, H.G.2
-
10
-
-
33749465589
-
Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation
-
Rauch A., et al. Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. Am. J. Med. Genet. A 2006, 140:2063-2074.
-
(2006)
Am. J. Med. Genet. A
, vol.140
, pp. 2063-2074
-
-
Rauch, A.1
-
11
-
-
84868686559
-
Diagnostic exome sequencing in persons with severe intellectual disability
-
de Ligt J., et al. Diagnostic exome sequencing in persons with severe intellectual disability. N. Engl. J. Med. 2012, 367:1921-1929.
-
(2012)
N. Engl. J. Med.
, vol.367
, pp. 1921-1929
-
-
de Ligt, J.1
-
12
-
-
0023239442
-
Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children
-
Lander E.S., Botstein D. Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 1987, 236:1567-1570.
-
(1987)
Science
, vol.236
, pp. 1567-1570
-
-
Lander, E.S.1
Botstein, D.2
-
13
-
-
33947220860
-
Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci
-
Najmabadi H., et al. Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci. Hum. Genet. 2007, 121:43-48.
-
(2007)
Hum. Genet.
, vol.121
, pp. 43-48
-
-
Najmabadi, H.1
-
14
-
-
78951473016
-
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots
-
Kuss A.W., et al. Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots. Hum. Genet. 2011, 129:141-148.
-
(2011)
Hum. Genet.
, vol.129
, pp. 141-148
-
-
Kuss, A.W.1
-
15
-
-
79958829439
-
Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity
-
Abou Jamra R., et al. Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity. Eur. J. Hum. Genet. 2011, 19:1161-1166.
-
(2011)
Eur. J. Hum. Genet.
, vol.19
, pp. 1161-1166
-
-
Abou Jamra, R.1
-
16
-
-
84860491233
-
Autosomal recessive nonsyndromic deafness genes: a review
-
Duman D., Tekin M. Autosomal recessive nonsyndromic deafness genes: a review. Front. Biosci. 2012, 17:2213-2236.
-
(2012)
Front. Biosci.
, vol.17
, pp. 2213-2236
-
-
Duman, D.1
Tekin, M.2
-
17
-
-
79961058538
-
Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans
-
Pak C., et al. Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans. Proc. Natl. Acad. Sci. U.S.A. 2011, 108:12390-12395.
-
(2011)
Proc. Natl. Acad. Sci. U.S.A.
, vol.108
, pp. 12390-12395
-
-
Pak, C.1
-
18
-
-
80052170163
-
MED23 mutation links intellectual disability to dysregulation of immediate early gene expression
-
Hashimoto S., et al. MED23 mutation links intellectual disability to dysregulation of immediate early gene expression. Science 2011, 333:1161-1163.
-
(2011)
Science
, vol.333
, pp. 1161-1163
-
-
Hashimoto, S.1
-
19
-
-
79952605814
-
Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13
-
Caliskan M., et al. Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13. Hum. Mol. Genet. 2011, 20:1285-1289.
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 1285-1289
-
-
Caliskan, M.1
-
20
-
-
84867260310
-
A population-based study of autosomal-recessive disease-causing mutations in a founder population
-
Chong J.X., et al. A population-based study of autosomal-recessive disease-causing mutations in a founder population. Am. J. Hum. Genet. 2012, 91:608-620.
-
(2012)
Am. J. Hum. Genet.
, vol.91
, pp. 608-620
-
-
Chong, J.X.1
-
21
-
-
18544386723
-
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation
-
Meloni I., et al. FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. Nat. Genet. 2002, 30:436-440.
-
(2002)
Nat. Genet.
, vol.30
, pp. 436-440
-
-
Meloni, I.1
-
22
-
-
80053906761
-
Deep sequencing reveals 50 novel genes for recessive cognitive disorders
-
Najmabadi H., et al. Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 2011, 478:57-63.
-
(2011)
Nature
, vol.478
, pp. 57-63
-
-
Najmabadi, H.1
-
24
-
-
84870879483
-
Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia
-
Schuurs-Hoeijmakers J.H., et al. Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia. Am. J. Hum. Genet. 2012, 91:1073-1081.
-
(2012)
Am. J. Hum. Genet.
, vol.91
, pp. 1073-1081
-
-
Schuurs-Hoeijmakers, J.H.1
-
25
-
-
44649135099
-
The La-related protein LARP7 is a component of the 7SK ribonucleoprotein and affects transcription of cellular and viral polymerase II genes
-
Markert A., et al. The La-related protein LARP7 is a component of the 7SK ribonucleoprotein and affects transcription of cellular and viral polymerase II genes. EMBO Rep. 2008, 9:569-575.
-
(2008)
EMBO Rep.
, vol.9
, pp. 569-575
-
-
Markert, A.1
-
26
-
-
84866299495
-
Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism
-
Alazami A.M., et al. Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism. Hum. Mutat. 2012, 33:1429-1434.
-
(2012)
Hum. Mutat.
, vol.33
, pp. 1429-1434
-
-
Alazami, A.M.1
-
27
-
-
77955572163
-
Role of voltage-gated calcium channels in epilepsy
-
Zamponi G.W., et al. Role of voltage-gated calcium channels in epilepsy. Pflugers Arch. 2010, 460:395-403.
-
(2010)
Pflugers Arch.
, vol.460
, pp. 395-403
-
-
Zamponi, G.W.1
-
28
-
-
80053529552
-
An autosomal recessive syndrome of severe cognitive impairment, dysmorphic facies and skeletal abnormalities maps to the long arm of chromosome 17
-
Al-Owain M., et al. An autosomal recessive syndrome of severe cognitive impairment, dysmorphic facies and skeletal abnormalities maps to the long arm of chromosome 17. Clin. Genet. 2011, 80:489-492.
-
(2011)
Clin. Genet.
, vol.80
, pp. 489-492
-
-
Al-Owain, M.1
-
29
-
-
84867138730
-
A novel de novo 1.8Mb microdeletion of 17q21.33 associated with intellectual disability and dysmorphic features
-
Preiksaitiene E., et al. A novel de novo 1.8Mb microdeletion of 17q21.33 associated with intellectual disability and dysmorphic features. Eur. J. Med. Genet. 2012, 55:656-659.
-
(2012)
Eur. J. Med. Genet.
, vol.55
, pp. 656-659
-
-
Preiksaitiene, E.1
-
30
-
-
84860741715
-
Mutations in NSUN2 cause autosomal-recessive intellectual disability
-
Abbasi-Moheb L., et al. Mutations in NSUN2 cause autosomal-recessive intellectual disability. Am. J. Hum. Genet. 2012, 90:847-855.
-
(2012)
Am. J. Hum. Genet.
, vol.90
, pp. 847-855
-
-
Abbasi-Moheb, L.1
-
31
-
-
84860760092
-
Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability
-
Khan M.A., et al. Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability. Am. J. Hum. Genet. 2012, 90:856-863.
-
(2012)
Am. J. Hum. Genet.
, vol.90
, pp. 856-863
-
-
Khan, M.A.1
-
32
-
-
84864110032
-
Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome
-
Martinez F.J., et al. Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome. J. Med. Genet. 2012, 49:380-385.
-
(2012)
J. Med. Genet.
, vol.49
, pp. 380-385
-
-
Martinez, F.J.1
-
33
-
-
33845599493
-
Identification of human tRNA:m5C methyltransferase catalysing intron-dependent m5C formation in the first position of the anticodon of the pre-tRNA Leu (CAA)
-
Brzezicha B., et al. Identification of human tRNA:m5C methyltransferase catalysing intron-dependent m5C formation in the first position of the anticodon of the pre-tRNA Leu (CAA). Nucleic Acids Res. 2006, 34:6034-6043.
-
(2006)
Nucleic Acids Res.
, vol.34
, pp. 6034-6043
-
-
Brzezicha, B.1
-
34
-
-
3242689583
-
Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation
-
Freude K., et al. Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation. Am. J. Hum. Genet. 2004, 75:305-309.
-
(2004)
Am. J. Hum. Genet.
, vol.75
, pp. 305-309
-
-
Freude, K.1
-
35
-
-
84860318414
-
Intellectual disabilities, neuronal posttranscriptional RNA metabolism, and RNA-binding proteins: three actors for a complex scenario
-
Bardoni B., et al. Intellectual disabilities, neuronal posttranscriptional RNA metabolism, and RNA-binding proteins: three actors for a complex scenario. Prog. Brain Res. 2012, 197:29-51.
-
(2012)
Prog. Brain Res.
, vol.197
, pp. 29-51
-
-
Bardoni, B.1
-
36
-
-
41649110399
-
CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa
-
Noor A., et al. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. Am. J. Hum. Genet. 2008, 82:1011-1018.
-
(2008)
Am. J. Hum. Genet.
, vol.82
, pp. 1011-1018
-
-
Noor, A.1
-
37
-
-
79955046979
-
A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability
-
Khan M.A., et al. A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability. BMC Med. Genet. 2011, 12:56.
-
(2011)
BMC Med. Genet.
, vol.12
, pp. 56
-
-
Khan, M.A.1
-
38
-
-
84880708951
-
Homozygous deletion in TUSC3 causing syndromic intellectual disability: a new patient
-
Loddo S., et al. Homozygous deletion in TUSC3 causing syndromic intellectual disability: a new patient. Am. J. Med. Genet. A 2013, 161:2084-2087.
-
(2013)
Am. J. Med. Genet. A
, vol.161
, pp. 2084-2087
-
-
Loddo, S.1
-
39
-
-
80052722309
-
ST3GAL3 mutations impair the development of higher cognitive functions
-
Hu H., et al. ST3GAL3 mutations impair the development of higher cognitive functions. Am. J. Hum. Genet. 2011, 89:407-414.
-
(2011)
Am. J. Hum. Genet.
, vol.89
, pp. 407-414
-
-
Hu, H.1
-
40
-
-
84872486706
-
TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype
-
Marangi G., et al. TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype. Eur. J. Hum. Genet. 2013, 21:229-232.
-
(2013)
Eur. J. Hum. Genet.
, vol.21
, pp. 229-232
-
-
Marangi, G.1
-
41
-
-
80051519015
-
Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability
-
Rafiq M.A., et al. Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. Am. J. Hum. Genet. 2011, 89:176-182.
-
(2011)
Am. J. Hum. Genet.
, vol.89
, pp. 176-182
-
-
Rafiq, M.A.1
-
42
-
-
0035980015
-
RNA polymerase II elongator holoenzyme is composed of two discrete subcomplexes
-
Winkler G.S., et al. RNA polymerase II elongator holoenzyme is composed of two discrete subcomplexes. J. Biol. Chem. 2001, 276:32743-32749.
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 32743-32749
-
-
Winkler, G.S.1
-
43
-
-
84857740990
-
Genetic mapping and exome sequencing identify variants associated with five novel diseases
-
Puffenberger E.G., et al. Genetic mapping and exome sequencing identify variants associated with five novel diseases. PLoS ONE 2012, 7:e28936.
-
(2012)
PLoS ONE
, vol.7
-
-
Puffenberger, E.G.1
-
44
-
-
84862226134
-
Neuronal caspase 2 activity and function requires RAIDD, but not PIDD
-
Ribe E.M., et al. Neuronal caspase 2 activity and function requires RAIDD, but not PIDD. Biochem. J. 2012, 444:591-599.
-
(2012)
Biochem. J.
, vol.444
, pp. 591-599
-
-
Ribe, E.M.1
-
45
-
-
80053927702
-
Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function
-
Bjursell M.K., et al. Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function. Am. J. Hum. Genet. 2011, 89:507-515.
-
(2011)
Am. J. Hum. Genet.
, vol.89
, pp. 507-515
-
-
Bjursell, M.K.1
-
46
-
-
84860902129
-
A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance
-
Ali B.R., et al. A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance. Orphanet J. Rare Dis. 2012, 7:27.
-
(2012)
Orphanet J. Rare Dis.
, vol.7
, pp. 27
-
-
Ali, B.R.1
-
47
-
-
84867244386
-
Genome-wide linkage and association analyses implicate FASN in predisposition to uterine leiomyomata
-
Eggert S.L., et al. Genome-wide linkage and association analyses implicate FASN in predisposition to uterine leiomyomata. Am. J. Hum. Genet. 2012, 91:621-628.
-
(2012)
Am. J. Hum. Genet.
, vol.91
, pp. 621-628
-
-
Eggert, S.L.1
-
48
-
-
34248594090
-
A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity
-
Frayling T.M., et al. A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science 2007, 316:889-894.
-
(2007)
Science
, vol.316
, pp. 889-894
-
-
Frayling, T.M.1
-
49
-
-
67649875640
-
Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations
-
Boissel S., et al. Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations. Am. J. Hum. Genet. 2009, 85:106-111.
-
(2009)
Am. J. Hum. Genet.
, vol.85
, pp. 106-111
-
-
Boissel, S.1
-
50
-
-
79954501471
-
Prevalence of chronic health conditions in children with intellectual disability: a systematic literature review
-
Oeseburg B., et al. Prevalence of chronic health conditions in children with intellectual disability: a systematic literature review. Intellect. Dev. Disabil. 2011, 49:59-85.
-
(2011)
Intellect. Dev. Disabil.
, vol.49
, pp. 59-85
-
-
Oeseburg, B.1
-
51
-
-
84858275947
-
Epilepsy and autism: is there a special relationshipα
-
Berg A.T., Plioplys S. Epilepsy and autism: is there a special relationshipα. Epilepsy Behav. 2012, 23:193-198.
-
(2012)
Epilepsy Behav.
, vol.23
, pp. 193-198
-
-
Berg, A.T.1
Plioplys, S.2
-
52
-
-
79953066924
-
Causes of learning disability and epilepsy: a review
-
Prince E., Ring H. Causes of learning disability and epilepsy: a review. Curr. Opin. Neurol. 2011, 24:154-158.
-
(2011)
Curr. Opin. Neurol.
, vol.24
, pp. 154-158
-
-
Prince, E.1
Ring, H.2
-
53
-
-
84862238819
-
Seizures and X-linked intellectual disability
-
Stevenson R.E., et al. Seizures and X-linked intellectual disability. Eur. J. Med. Genet. 2012, 55:307-312.
-
(2012)
Eur. J. Med. Genet.
, vol.55
, pp. 307-312
-
-
Stevenson, R.E.1
-
54
-
-
84870843714
-
Epilepsy in four genetically determined syndromes of intellectual disability
-
Leung H.T., Ring H. Epilepsy in four genetically determined syndromes of intellectual disability. J. Intellect. Disabil. Res. 2013, 57:3-20.
-
(2013)
J. Intellect. Disabil. Res.
, vol.57
, pp. 3-20
-
-
Leung, H.T.1
Ring, H.2
-
55
-
-
77956394126
-
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24
-
Corbett M.A., et al. A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. Am. J. Hum. Genet. 2010, 87:371-375.
-
(2010)
Am. J. Hum. Genet.
, vol.87
, pp. 371-375
-
-
Corbett, M.A.1
-
56
-
-
77956361137
-
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy
-
Falace A., et al. TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy. Am. J. Hum. Genet. 2010, 87:365-370.
-
(2010)
Am. J. Hum. Genet.
, vol.87
, pp. 365-370
-
-
Falace, A.1
-
57
-
-
84874779755
-
TBC1D24 truncating mutation resulting in severe neurodegeneration
-
Guven A., Tolun A. TBC1D24 truncating mutation resulting in severe neurodegeneration. J. Med. Genet. 2013, 50:199-202.
-
(2013)
J. Med. Genet.
, vol.50
, pp. 199-202
-
-
Guven, A.1
Tolun, A.2
-
58
-
-
84878122558
-
Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy
-
Milh M., et al. Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy. Hum. Mutat. 2013, 34:869-872.
-
(2013)
Hum. Mutat.
, vol.34
, pp. 869-872
-
-
Milh, M.1
-
59
-
-
84870592909
-
Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences
-
Labate A., et al. Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences. Epilepsia 2012, 53:e196-e199.
-
(2012)
Epilepsia
, vol.53
-
-
Labate, A.1
-
60
-
-
84874940821
-
Genetics of the epilepsies: where are we and where are we goingα
-
Helbig I., Lowenstein D.H. Genetics of the epilepsies: where are we and where are we goingα. Curr. Opin. Neurol. 2013, 26:179-185.
-
(2013)
Curr. Opin. Neurol.
, vol.26
, pp. 179-185
-
-
Helbig, I.1
Lowenstein, D.H.2
-
61
-
-
0141427915
-
Epidemiological surveys of autism and other pervasive developmental disorders: an update
-
Fombonne E. Epidemiological surveys of autism and other pervasive developmental disorders: an update. J. Autism Dev. Disord. 2003, 33:365-382.
-
(2003)
J. Autism Dev. Disord.
, vol.33
, pp. 365-382
-
-
Fombonne, E.1
-
62
-
-
0037656313
-
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
-
Jamain S., et al. Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat. Genet. 2003, 34:27-29.
-
(2003)
Nat. Genet.
, vol.34
, pp. 27-29
-
-
Jamain, S.1
-
63
-
-
12144291350
-
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family
-
Laumonnier F., et al. X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. Am. J. Hum. Genet. 2004, 74:552-557.
-
(2004)
Am. J. Hum. Genet.
, vol.74
, pp. 552-557
-
-
Laumonnier, F.1
-
64
-
-
84861443524
-
A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism
-
Celestino-Soper P.B., et al. A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. Proc. Natl. Acad. Sci. U.S.A. 2012, 109:7974-7981.
-
(2012)
Proc. Natl. Acad. Sci. U.S.A.
, vol.109
, pp. 7974-7981
-
-
Celestino-Soper, P.B.1
-
65
-
-
84881664021
-
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing
-
Jiang Y.H., et al. Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. Am. J. Hum. Genet. 2013, 93:249-263.
-
(2013)
Am. J. Hum. Genet.
, vol.93
, pp. 249-263
-
-
Jiang, Y.H.1
-
66
-
-
55949136937
-
Intellectual disability co-occurring with schizophrenia and other psychiatric illness: population-based study
-
Morgan V.A., et al. Intellectual disability co-occurring with schizophrenia and other psychiatric illness: population-based study. Br. J. Psychiatry 2008, 193:364-372.
-
(2008)
Br. J. Psychiatry
, vol.193
, pp. 364-372
-
-
Morgan, V.A.1
-
67
-
-
64549147485
-
Support for the involvement of large copy number variants in the pathogenesis of schizophrenia
-
Kirov G., et al. Support for the involvement of large copy number variants in the pathogenesis of schizophrenia. Hum. Mol. Genet. 2009, 18:1497-1503.
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 1497-1503
-
-
Kirov, G.1
-
68
-
-
74249088463
-
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies
-
de Kovel C.G., et al. Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain 2010, 133:23-32.
-
(2010)
Brain
, vol.133
, pp. 23-32
-
-
de Kovel, C.G.1
-
69
-
-
79952313620
-
Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting
-
Betancur C. Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting. Brain Res. 2011, 1380:42-77.
-
(2011)
Brain Res.
, vol.1380
, pp. 42-77
-
-
Betancur, C.1
-
70
-
-
84865017141
-
Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly
-
Guven A., et al. Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly. Neurogenetics 2012, 13:189-194.
-
(2012)
Neurogenetics
, vol.13
, pp. 189-194
-
-
Guven, A.1
-
71
-
-
84860297457
-
De novo gene disruptions in children on the autistic spectrum
-
Iossifov I., et al. De novo gene disruptions in children on the autistic spectrum. Neuron 2012, 74:285-299.
-
(2012)
Neuron
, vol.74
, pp. 285-299
-
-
Iossifov, I.1
-
72
-
-
34447278070
-
Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation
-
Ullmann R., et al. Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation. Hum. Mutat. 2007, 28:674-682.
-
(2007)
Hum. Mutat.
, vol.28
, pp. 674-682
-
-
Ullmann, R.1
-
73
-
-
0142073440
-
Genetic and neurodevelopmental influences in autistic disorder
-
Nicolson R., Szatmari P. Genetic and neurodevelopmental influences in autistic disorder. Can. J. Psychiatry 2003, 48:526-537.
-
(2003)
Can. J. Psychiatry
, vol.48
, pp. 526-537
-
-
Nicolson, R.1
Szatmari, P.2
-
74
-
-
84860780495
-
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
-
Sanders S.J., et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 2012, 485:237-241.
-
(2012)
Nature
, vol.485
, pp. 237-241
-
-
Sanders, S.J.1
-
75
-
-
84860741138
-
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
-
O'Roak B.J., et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 2012, 485:246-250.
-
(2012)
Nature
, vol.485
, pp. 246-250
-
-
O'Roak, B.J.1
-
76
-
-
84860712363
-
Patterns and rates of exonic de novo mutations in autism spectrum disorders
-
Neale B.M., et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 2012, 485:242-245.
-
(2012)
Nature
, vol.485
, pp. 242-245
-
-
Neale, B.M.1
-
77
-
-
47249088331
-
Identifying autism loci and genes by tracing recent shared ancestry
-
Morrow E.M., et al. Identifying autism loci and genes by tracing recent shared ancestry. Science 2008, 321:218-223.
-
(2008)
Science
, vol.321
, pp. 218-223
-
-
Morrow, E.M.1
-
78
-
-
84880252779
-
Intellectual disability is associated with increased runs of homozygosity in simplex autism
-
Gamsiz E.D., et al. Intellectual disability is associated with increased runs of homozygosity in simplex autism. Am. J. Hum. Genet. 2013, 93:103-109.
-
(2013)
Am. J. Hum. Genet.
, vol.93
, pp. 103-109
-
-
Gamsiz, E.D.1
-
79
-
-
84872696957
-
Using whole-exome sequencing to identify inherited causes of autism
-
Yu T.W., et al. Using whole-exome sequencing to identify inherited causes of autism. Neuron 2013, 77:259-273.
-
(2013)
Neuron
, vol.77
, pp. 259-273
-
-
Yu, T.W.1
-
80
-
-
84860564877
-
Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism
-
Chahrour M.H., et al. Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism. PLoS Genet. 2012, 8:e1002635.
-
(2012)
PLoS Genet.
, vol.8
-
-
Chahrour, M.H.1
-
81
-
-
84872722295
-
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders
-
Lim E.T., et al. Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron 2013, 77:235-242.
-
(2013)
Neuron
, vol.77
, pp. 235-242
-
-
Lim, E.T.1
-
82
-
-
70350548087
-
Association study of 21 circadian genes with bipolar I disorder, schizoaffective disorder, and schizophrenia
-
Mansour H.A., et al. Association study of 21 circadian genes with bipolar I disorder, schizoaffective disorder, and schizophrenia. Bipolar Disord. 2009, 11:701-710.
-
(2009)
Bipolar Disord.
, vol.11
, pp. 701-710
-
-
Mansour, H.A.1
-
83
-
-
77954144873
-
Consanguinity and increased risk for schizophrenia in Egypt
-
Mansour H., et al. Consanguinity and increased risk for schizophrenia in Egypt. Schizophr. Res. 2010, 120:108-112.
-
(2010)
Schizophr. Res.
, vol.120
, pp. 108-112
-
-
Mansour, H.1
-
84
-
-
34447305458
-
Variability of reproductive history across the Swiss SAPALDIA cohort - patterns and main determinants
-
Dratva J., et al. Variability of reproductive history across the Swiss SAPALDIA cohort - patterns and main determinants. Ann. Hum. Biol. 2007, 34:437-453.
-
(2007)
Ann. Hum. Biol.
, vol.34
, pp. 437-453
-
-
Dratva, J.1
-
85
-
-
79952359958
-
Autosomal recessive disease in children of consanguineous parents: inferences from the proportion of compound heterozygotes
-
Ten Kate L.P., et al. Autosomal recessive disease in children of consanguineous parents: inferences from the proportion of compound heterozygotes. J. Community Genet. 2010, 1:37-40.
-
(2010)
J. Community Genet.
, vol.1
, pp. 37-40
-
-
Ten Kate, L.P.1
-
86
-
-
84868543309
-
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
-
Rauch A., et al. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet 2012, 380:1674-1682.
-
(2012)
Lancet
, vol.380
, pp. 1674-1682
-
-
Rauch, A.1
-
87
-
-
84873027175
-
Genetic basis of intellectual disability
-
Ellison J.W., et al. Genetic basis of intellectual disability. Annu. Rev. Med. 2013, 64:441-450.
-
(2013)
Annu. Rev. Med.
, vol.64
, pp. 441-450
-
-
Ellison, J.W.1
-
88
-
-
0030033302
-
Genetic referrals of Middle Eastern origin in a western city: inbreeding and disease profile
-
Hoodfar E., Teebi A.S. Genetic referrals of Middle Eastern origin in a western city: inbreeding and disease profile. J. Med. Genet. 1996, 33:212-215.
-
(1996)
J. Med. Genet.
, vol.33
, pp. 212-215
-
-
Hoodfar, E.1
Teebi, A.S.2
-
89
-
-
34548402902
-
Consanguinity and genetic disorders. Profile from Jordan
-
Hamamy H.A., et al. Consanguinity and genetic disorders. Profile from Jordan. Saudi Med. J. 2007, 28:1015-1017.
-
(2007)
Saudi Med. J.
, vol.28
, pp. 1015-1017
-
-
Hamamy, H.A.1
-
90
-
-
77957907029
-
Neurogenetics: advancing the 'next-generation' of brain research
-
Zoghbi H.Y., Warren S.T. Neurogenetics: advancing the 'next-generation' of brain research. Neuron 2010, 68:165-173.
-
(2010)
Neuron
, vol.68
, pp. 165-173
-
-
Zoghbi, H.Y.1
Warren, S.T.2
-
91
-
-
75749103383
-
Rate, molecular spectrum, and consequences of human mutation
-
Lynch M. Rate, molecular spectrum, and consequences of human mutation. Proc. Natl. Acad. Sci. U.S.A. 2010, 107:961-968.
-
(2010)
Proc. Natl. Acad. Sci. U.S.A.
, vol.107
, pp. 961-968
-
-
Lynch, M.1
-
92
-
-
78649484216
-
A de novo paradigm for mental retardation
-
Vissers L.E., et al. A de novo paradigm for mental retardation. Nat. Genet. 2010, 42:1109-1112.
-
(2010)
Nat. Genet.
, vol.42
, pp. 1109-1112
-
-
Vissers, L.E.1
-
93
-
-
84862580595
-
Exome sequencing can improve diagnosis and alter patient management
-
Dixon-Salazar T.J., et al. Exome sequencing can improve diagnosis and alter patient management. Sci. Transl. Med. 2012, 4:138ra178.
-
(2012)
Sci. Transl. Med.
, vol.4
-
-
Dixon-Salazar, T.J.1
-
94
-
-
78651393550
-
Carrier testing for severe childhood recessive diseases by next-generation sequencing
-
Bell C.J., et al. Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci. Transl. Med. 2011, 3:65ra64.
-
(2011)
Sci. Transl. Med.
, vol.3
-
-
Bell, C.J.1
-
95
-
-
84867475619
-
Comprehensive carrier screening and molecular diagnostic testing for recessive childhood diseases
-
[Edition1]
-
Kingsmore S. Comprehensive carrier screening and molecular diagnostic testing for recessive childhood diseases. PLoS Curr. 2012, 1:1-23. [Edition1]. 10.1371/e4f9877ab8ffa9.
-
(2012)
PLoS Curr.
, vol.1
, pp. 1-23
-
-
Kingsmore, S.1
-
96
-
-
49449089496
-
A community genetics perspective on consanguineous marriage
-
Bittles A.H. A community genetics perspective on consanguineous marriage. Community Genet. 2008, 11:324-330.
-
(2008)
Community Genet.
, vol.11
, pp. 324-330
-
-
Bittles, A.H.1
-
97
-
-
0036245054
-
Science and society: genetic counselling and customary consanguineous marriage
-
Modell B., Darr A. Science and society: genetic counselling and customary consanguineous marriage. Nat. Rev. Genet. 2002, 3:225-229.
-
(2002)
Nat. Rev. Genet.
, vol.3
, pp. 225-229
-
-
Modell, B.1
Darr, A.2
-
98
-
-
0001507896
-
Coefficients of inbreeding and relationship
-
Wright S. Coefficients of inbreeding and relationship. Am. Nat. 1922, 56:330-338.
-
(1922)
Am. Nat.
, vol.56
, pp. 330-338
-
-
Wright, S.1
-
99
-
-
18744371004
-
Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation
-
Molinari F., et al. Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation. Science 2002, 298:1779-1781.
-
(2002)
Science
, vol.298
, pp. 1779-1781
-
-
Molinari, F.1
-
100
-
-
8844245412
-
A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation
-
Higgins J.J., et al. A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation. Neurology 2004, 63:1927-1931.
-
(2004)
Neurology
, vol.63
, pp. 1927-1931
-
-
Higgins, J.J.1
-
101
-
-
33645128492
-
The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation
-
Basel-Vanagaite L., et al. The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation. J. Med. Genet. 2006, 43:203-210.
-
(2006)
J. Med. Genet.
, vol.43
, pp. 203-210
-
-
Basel-Vanagaite, L.1
-
102
-
-
34547784323
-
A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation
-
Motazacker M.M., et al. A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. Am. J. Hum. Genet. 2007, 81:792-798.
-
(2007)
Am. J. Hum. Genet.
, vol.81
, pp. 792-798
-
-
Motazacker, M.M.1
-
103
-
-
42749089610
-
A defect in the TUSC3 gene is associated with autosomal recessive mental retardation
-
Garshasbi M., et al. A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. Am. J. Hum. Genet. 2008, 82:1158-1164.
-
(2008)
Am. J. Hum. Genet.
, vol.82
, pp. 1158-1164
-
-
Garshasbi, M.1
-
104
-
-
42749084689
-
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation
-
Molinari F., et al. Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation. Am. J. Hum. Genet. 2008, 82:1150-1157.
-
(2008)
Am. J. Hum. Genet.
, vol.82
, pp. 1150-1157
-
-
Molinari, F.1
-
105
-
-
71149100260
-
Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation
-
Mir A., et al. Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation. Am. J. Hum. Genet. 2009, 85:909-915.
-
(2009)
Am. J. Hum. Genet.
, vol.85
, pp. 909-915
-
-
Mir, A.1
-
106
-
-
71449106786
-
Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation
-
Philippe O., et al. Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation. Am. J. Hum. Genet. 2009, 85:903-908.
-
(2009)
Am. J. Hum. Genet.
, vol.85
, pp. 903-908
-
-
Philippe, O.1
-
107
-
-
71149100261
-
A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly
-
Mochida G.H., et al. A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly. Am. J. Hum. Genet. 2009, 85:897-902.
-
(2009)
Am. J. Hum. Genet.
, vol.85
, pp. 897-902
-
-
Mochida, G.H.1
-
108
-
-
84873560054
-
Comparison of sequencing platforms for single nucleotide variant calls in a human sample
-
Ratan A., et al. Comparison of sequencing platforms for single nucleotide variant calls in a human sample. PLoS ONE 2013, 8:e55089.
-
(2013)
PLoS ONE
, vol.8
-
-
Ratan, A.1
-
109
-
-
79958707744
-
Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP
-
Ropers F., et al. Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP. Hum. Mol. Genet. 2011, 20:2585-2590.
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 2585-2590
-
-
Ropers, F.1
|